Retinitis pigmentosa

Disease Term Disease ID Gene Symbol Classification References Source
RETINITIS PIGMENTOSA
C0035334791MONDO:0019200268000MESH:D012174PS268000MONDO_0019200
BBS4 Causal — Disgenet
BBS9 Causal — Disgenet
BEST1 Causal
19853238 20301590
Disgenet Orphanet
CACNA1F Causal — Disgenet
CDH23 Causal — Disgenet
CDH3 Causal — Disgenet
CDHR1 Causal
20087419
Disgenet GWAS catalog Orphanet
CEP290 Causal — Disgenet
CERKL Causal
20301590
Disgenet GWAS catalog Orphanet
CFAP410 Causal — Disgenet
CFAP418 Causal
20301590 22177090
CTD ClinVar Disgenet HPO Orphanet
CHM Causal — Disgenet
CLN3 Causal — Disgenet
CLRN1 Causal
20301590
CTD ClinVar Disgenet GWAS catalog HPO Orphanet
CNGA1 Causal
20301590 7479749
CTD ClinVar Disgenet GWAS catalog HPO Orphanet
CNGB1 Causal
11379879 20301590
CTD Disgenet GWAS catalog Orphanet
CNGB3 Causal — Disgenet
COL18A1 Causal — Disgenet
CRB1 Causal
10508521 11389483 16272259 20301590
CTD Disgenet GWAS catalog Orphanet
CRX Causal
20301590
CTD ClinVar Disgenet GWAS catalog HPO Orphanet
CRYGS Causal — Disgenet
CWC27 Causal — Disgenet
CYP4V2 Causal — Disgenet
DHDDS Causal
20301590
Disgenet GWAS catalog Orphanet
DHX38 Causal
24737827 30208423
CTD Disgenet GWAS catalog Orphanet
EYS Causal
18836446 20237254 18976725 27375351 24652164 21519034 20537394 29159838 20301590 34594039
CTD Disgenet GWAS catalog Orphanet
FAM161A Causal
20301590
Disgenet GWAS catalog Orphanet
FLVCR1 Causal — Disgenet
GLDC Causal — Disgenet
GNAT1 Causal — Disgenet
GUCY2D Causal
16272259
CTD Disgenet
HK1 Causal — Disgenet
IFT140 Causal
26216056
Disgenet Orphanet
IFT172 Causal
25168386
CTD Disgenet Orphanet
IMPDH1 Causal
11875050 16384941 20301590
CTD Disgenet Orphanet
IMPG1 Causal
32817297
CTD Disgenet Orphanet
IMPG2 Causal
20301590
CTD Disgenet Orphanet
IQCB1 Causal — Disgenet
KCNJ13 Causal — Disgenet
KIAA1549 Causal
30120214
Disgenet GWAS catalog Orphanet
KIF11 Causal — Disgenet
KIZ Causal
24680887
Disgenet GWAS catalog Orphanet
KLHL7 Causal
20301590
CTD Disgenet Orphanet
LARGE1 Causal — Disgenet
LCA5 Causal — Disgenet
LRAT Causal
18055821 20301590
CTD ClinVar Disgenet GenCC HPO Orphanet
MAK Causal
20301590
Disgenet HPO Orphanet
MERTK Causal
11062461 20301590
CTD Disgenet GWAS catalog Orphanet
MFSD8 Causal — Disgenet
MYO7A Causal — Disgenet